• Title/Summary/Keyword: Systemic lupus erythematosus (SLE)

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CD72 is a Negative Regulator of B Cell Responses to Nuclear Lupus Self-antigens and Development of Systemic Lupus Erythematosus

  • Takeshi Tsubata
    • IMMUNE NETWORK
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    • v.19 no.1
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    • pp.1.1-1.13
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    • 2019
  • Systemic lupus erythematosus (SLE) is the prototypic systemic autoimmune disease characterized by production of autoantibodies to various nuclear antigens and overexpression of genes regulated by IFN-I called IFN signature. Genetic studies on SLE patients and mutational analyses of mouse models demonstrate crucial roles of nucleic acid (NA) sensors in development of SLE. Although NA sensors are involved in induction of antimicrobial immune responses by recognizing microbial NAs, recognition of self NAs by NA sensors induces production of autoantibodies to NAs in B cells and production of IFN-I in plasmacytoid dendritic cells. Among various NA sensors, the endosomal RNA sensor TLR7 plays an essential role in development of SLE at least in mouse models. CD72 is an inhibitory B cell co-receptor containing an immunoreceptor tyrosine-based inhibition motif (ITIM) in the cytoplasmic region and a C-type lectin like-domain (CTLD) in the extracellular region. CD72 is known to regulate development of SLE because CD72 polymorphisms associate with SLE in both human and mice and CD72-/- mice develop relatively severe lupus-like disease. CD72 specifically recognizes the RNA-containing endogenous TLR7 ligand Sm/RNP by its extracellular CTLD, and inhibits B cell responses to Sm/RNP by ITIM-mediated signal inhibition. These findings indicate that CD72 inhibits development of SLE by suppressing TLR7-dependent B cell response to self NAs. CD72 is thus involved in discrimination of self-NAs from microbial NAs by specifically suppressing autoimmune responses to self-NAs.

Severe Hypophosphatemia in a Girl with Systemic Lupus Erythematosus

  • Lim, Taek Jin;Kim, Su Young;Kim, Seong Heon
    • Childhood Kidney Diseases
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    • v.21 no.2
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    • pp.156-159
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    • 2017
  • Systemic lupus erythematosus (SLE) is characterized by various symptoms and multi-organ involvement. Hypophosphatemia has been described in several diseases accompanied with systemic inflammation. However, hypophosphatemia has rarely been described in SLE patients, especially in those without nephritis. We report the case of a 13-year-old girl with SLE who developed hypophosphatemia without renal involvement. Her hypophosphatemia was caused by renal loss of phosphorus and persisted for 7 months. It improved as her complement levels increased. Therefore, hypophosphatemia may be related to disease activity in SLE patients.

IoT-based systemic lupus erythematosus prediction model using hybrid genetic algorithm integrated with ANN

  • Edison Prabhu K;Surendran D
    • ETRI Journal
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    • v.45 no.4
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    • pp.594-602
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    • 2023
  • Internet of things (IoT) is commonly employed to detect different kinds of diseases in the health sector. Systemic lupus erythematosus (SLE) is an autoimmune illness that occurs when the body's immune system attacks its own connective tissues and organs. Because of the complicated interconnections between illness trigger exposure levels across time, humans have trouble predicting SLE symptom severity levels. An effective automated machine learning model that intakes IoT data was created to forecast SLE symptoms to solve this issue. IoT has several advantages in the healthcare industry, including interoperability, information exchange, machine-to-machine networking, and data transmission. An SLE symptom-predicting machine learning model was designed by integrating the hybrid marine predator algorithm and atom search optimization with an artificial neural network. The network is trained by the Gene Expression Omnibus dataset as input, and the patients' data are used as input to predict symptoms. The experimental results demonstrate that the proposed model's accuracy is higher than state-of-the-art prediction models at approximately 99.70%.

Identifying pathogenic variants related to systemic lupus erythematosus by integrating genomic databases and a bioinformatic approach

  • Ratih Dewi Yudhani;Dyonisa Nasirochmi Pakha;Suyatmi Suyatmi;Lalu Muhammad Irham
    • Genomics & Informatics
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    • v.21 no.3
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    • pp.37.1-37.11
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    • 2023
  • Systemic lupus erythematosus (SLE) is an inflammatory-autoimmune disease with a complex multi-organ pathogenesis, and it is known to be associated with significant morbidity and mortality. Various genetic, immunological, endocrine, and environmental factors contribute to SLE. Genomic variants have been identified as potential contributors to SLE susceptibility across multiple continents. However, the specific pathogenic variants that drive SLE remain largely undefined. In this study, we sought to identify these pathogenic variants across various continents using genomic and bioinformatic-based methodologies. We found that the variants rs35677470, rs34536443, rs17849502, and rs13306575 are likely damaging in SLE. Furthermore, these four variants appear to affect the gene expression of NCF2, TYK2, and DNASE1L3 in whole blood tissue. Our findings suggest that these genomic variants warrant further research for validation in functional studies and clinical trials involving SLE patients. We conclude that the integration of genomic and bioinformatic-based databases could enhance our understanding of disease susceptibility, including that of SLE.

Two Cases of Thrombotic Thrombocytopenic Purpura in Systemic Lupus Erythematosus (전신성 홍반성 루프스와 동시 발병한 혈전성 혈소판 감소성 자반증 2예)

  • Kim, Hye-Young;Kim, Hyung-Hoi;Kim, Su-Yung
    • Childhood Kidney Diseases
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    • v.11 no.2
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    • pp.288-293
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    • 2007
  • Thrombotic thrombocytopenic purpura(TTP) is a rare but life-threatening multi-system disorder characterized by the classic pentad of clinical features that includes fever, microangiopathic hemolytic anemia, thrombocytopenia, neurologic abnormalities and renal dysfunction. TTP has been rarely reported to simultaneously present with systemic lupus erythematosus (SLE). While it is important to distinguish between the two diseases of therapeutic implication, cases of concurrent TTP and SLE help to elucidate the pathophysiology that underlies each condition. We describe two adolescents with synchronous TTP and SLE, and review the literature.

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A Case of The Stroke Patient with Systemic lupus erythematosus(SLE) (뇌경색이 병발(倂發)한 전신성 홍반성 루푸스 환자 1례(例) 보고)

  • Lim, Seung-Man;Oh, Sang-Deok;Shin, Hyeon-Su;Kim, Yeong-Tae;Ra, Su-Yeon;Paik, Eun-Tan
    • The Journal of Internal Korean Medicine
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    • v.22 no.4
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    • pp.729-733
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    • 2001
  • We report a case of the cerebellar infarction and pons, medulla and mid brain infarction seen in a 30-year-old female with systemic lupus erythematosus(SLE). SLE has been diagnosed at 1992, and treated with western medicine for 10 years. The patient with right hand tremor and dysarthria, as the symptoms of a cerebellar infarction, visited our hospital. During treatment, the patient constantly complained left knee pain, it turned out the bone infarction and ligament injury in the MRI scan at May, 18, 2001, that was the side effect of the long period steroid therapy. At June 1, 2001, the patient revealed quadriparesis, dysphagia and dizziness. So we took the brain MRI scan, it showed pons, medulla and mid brain infarction. As the consequence of the oriental treatments, the symptoms of SLE had the improvement and the values of BUN, Creatinine were improved. But the symptoms of the stroke were not much changed.

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Recapitulation of Candidate Systemic Lupus Erythematosus-Associated Variants in Koreans

  • Kwon, Ki-Sung;Cho, Hye-Young;Chung, Yeun-Jun
    • Genomics & Informatics
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    • v.14 no.3
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    • pp.85-89
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    • 2016
  • Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that affects multiple organ systems. Although the etiology of SLE remains unclear, it is widely accepted that genetic factors could be involved in its pathogenesis. A number of genome-wide association studies (GWASs) have identified novel single-nucleotide polymorphisms (SNPs) associated with the risk of SLE in diverse populations. However, not all the SNP candidates identified from non-Asian populations have been validated in Koreans. In this study, we aimed to replicate the SNPs that were recently discovered in the GWAS; these SNPs have not been validated in Koreans or have only been replicated in Koreans with an insufficient sample size to conclude any association. For this, we selected five SNPs (rs1801274 in FCGR2A and rs2286672 in PLD2, rs887369 in CXorf21, rs9782955 in LYST, and rs3794060 in NADSYN1). Through the replication study with 656 cases and 622 controls, rs1801274 in FCGR2A was found to be significantly associated with SLE in Koreans (odds ratio, 1.26, 95% confidence interval, 1.06 to 1.50; p = 0.01 in allelic model). This association was also significant in two other models (dominant and recessive). The other four SNPs did not show a significant association. Our data support that FCGR polymorphisms play important roles in the susceptibility to SLE in diverse populations, including Koreans.

A Case of Systemic Lupus Erythematosus Presenting with Amaurosis Fugax without Antiphospholipid Antibodies Syndrome (항인지질항체증후군을 동반하지 않은 일과성 단안 실명으로 발현된 전신성 홍반성 루푸스 1 예)

  • Kim, Jung-Hyun;Hah, Jung-Sang;Park, Mee-Young;Lee, Se-Jin;Lee, Jun
    • Journal of Yeungnam Medical Science
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    • v.23 no.1
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    • pp.113-117
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    • 2006
  • Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that may affect many organ systems including the nervous system. The immune response in patients with SLE can cause inflammation and other damage that can cause significant injury to the arteries and tissues. A 48-year-old woman was admitted to the hospital because of transient monocular blindness. Magnetic resonance imaging and conventional angiography showed severe stenosis of the distal intracranial internal carotid artery. The patient was diagnosed as having SLE but the antiphospholipid antibodies were negative. Amaurosis fugax has not been previously reported as an initial manifestation of SLE in Korea. We report a patient with a retinal transient ischemic attack as the first manifestation of SLE.

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A Case of Steroid-responsive Pericardial Effusion as an Initial Manifestation of Childhood Systemic Lupus Erythematosus (심낭삼출로 발병하여 스테로이드 단독치료로 호전된 소아 전신성 홍반성 낭창 1례)

  • Lee Jin-Seok;Ha Tae-Sun
    • Childhood Kidney Diseases
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    • v.8 no.1
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    • pp.80-85
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    • 2004
  • The systemic lupus erythematosus(SLE) is a systemic inflammatory disease caused by autoimmune mechanism, involving blood cells, the kidney, the central nervous system, and etc. The heart is one of the frequently involved organs but it is rare as an initial manifestation. Therefore, early suspicion and accurate diagnosis followed by aggressive immunosuppressive therapy including corticosteroid is mandatory for heart-involved patients. We experienced a case of pericardial effusion as an initial manifestation of childhood SLE, which showed immediate response to corticosteroid.

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Acute left main coronary artery thrombosis as an initial presentation of systemic lupus erythematosus

  • Choi, Kang Un;Kim, Ung
    • Journal of Yeungnam Medical Science
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    • v.35 no.2
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    • pp.227-231
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    • 2018
  • Left main coronary artery (LMCA) thrombosis is rare and the cause should be determined. A previously healthy young man presented with severe chest pain and dyspnea. The electrocardiogram showed typical ST-segment elevation myocardial infarction with clinical instability. Emergency coronary angiography revealed complete LMCA occlusion by thrombosis. After reperfusion, the patient was admitted to the cardiac care unit. He was diagnosed with hemolytic anemia and tested positive for antinuclear antibodies. Systemic lupus erythematosus (SLE) and LMCA disease due to systemic thrombosis were diagnosed. Steroids were started and the patient was discharged without complications. We report this rare case of LMCA thrombosis as an initial presentation of SLE.